STARD6 - StAR related lipid transfer domain containing 6 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 147323

About STARD6

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,324,492-54,357,858 (from NCBI)

This gene has 6 transcripts (splice variants), 114 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 7.1).

Summary

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in Cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD6 Products (4)

mRNA Protein Name
NM_001371101.1 NP_001358030.1 stAR-related lipid transfer protein 6 isoform 2
NM_001371102.1 NP_001358031.1 stAR-related lipid transfer protein 6 isoform 2
NM_001394379.1 NP_001381308.1 stAR-related lipid transfer protein 6 isoform 3
NM_139171.2 NP_631910.1 stAR-related lipid transfer protein 6 isoform 1

STARD6 Protein Structure

START

START: START domain (13 - 196)

  • 0
  • 100
  • 200
  • 220 a.a.
Protein Preferred Names Protein Names

stAR-related lipid transfer protein 6

  • START domain containing 6

Related Diseases

Diseases Alias
Blount'S Disease
  • Blount Disease

  • Tibia Vara

  • Osteochondrosis Deformans Tibiae

  • Osteochondrosis Deformans Tibiae, Familial Infantile Type

  • Familial Infantile Type Osteochondrosis Deformans Tibiae

  • Blount-Barber Syndrome

  • Erlacher-Blount Syndrome

  • Infantile Tibia Vara

  • Tibia Vara Blount

  • Blount Disease, Infantile

Vertigo, Benign Recurrent
  • Benign Paroxysmal Positional Vertigo

  • Bppv

  • Vestibulopathy, Familial

  • BRV

  • Vertigo, Benign Paroxysmal Positional

  • Benign Paroxysmal Positional Nystagmus

  • Benign Recurrent Vertigo

  • Familial Benign Recurrent Vertigo

  • Familial Vestibulopathy

  • Benign Paroxysmal Nystagmus

  • Bppv - [Benign Positional Paroxysmal Vertigo]

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta STARD6 VGNC VGNC:77950
Felis catus STARD6 VGNC VGNC:65756
Mus musculus STARD6 MGD MGI:2156774
Canis familiaris STARD6 VGNC VGNC:46886
Bos taurus STARD6 VGNC VGNC:35367
Rattus norvegicus STARD6 RGD RGD:1359639
Others STARD6 NCBI